ClinVar Miner

List of variants reported as benign for pulmonary fibrosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_006129.4(BMP1):c.-170A>G rs111596355 0.79635
NM_001317778.2(SFTPC):c.*123G>A rs7592 0.35835
NM_001317778.2(SFTPC):c.436-26C>G rs2070687 0.28233
NM_001317778.2(SFTPC):c.*174G>A rs1139547 0.26088
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn) rs1124 0.25849
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_198253.3(TERT):c.*99C>T rs2853690 0.20149
NM_001317778.2(SFTPC):c.*173C>T rs1126931 0.14333
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_003018.3(SFTPC):c.-134G>C rs28438700 0.06596
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_198253.3(TERT):c.*63C>T rs5031049 0.01135
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_003018.3(SFTPC):c.-91C>T rs77253713 0.00704
NM_003018.3(SFTPC):c.-92C>G rs79647630 0.00682
NM_198253.3(TERT):c.*153C>T rs114012142 0.00547
NM_001317778.2(SFTPC):c.18+13G>A rs74515418 0.00511
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001317778.2(SFTPC):c.228G>C (p.Pro76=) rs75413490 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_001317778.2(SFTPC):c.*12T>A rs200469074 0.00027
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001317778.2(SFTPC):c.552C>T (p.Gly184=) rs529959941 0.00012
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) rs200039720 0.00011
NM_001317778.2(SFTPC):c.18+12G>A rs202194863 0.00011
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) rs370825102 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001317778.2(SFTPC):c.228G>A (p.Pro76=) rs75413490
NM_001317778.2(SFTPC):c.351T>G (p.Pro117=) rs35457216
NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) rs75902455
NM_006129.4(BMP1):c.-277delG rs148697295
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567

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